Genomic variant #0001584835

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.37826018G>A
Reference Copied from the Exome Variant Server
DB-ID PNMT_000017
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PNMT NM_002686.3 ?/? c.339G>A r.(?) p.(Trp113*)